Citations for
1CBBM1, OPN1LW, OPN1MW
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Sato MT, Shiokawa N, Kohl S, Wissinger B.
Int J Mol Sci Jun 20;23(12):6868. doi: 10.3390/ijms23126868 2022
2OPN1LW, OPN1MW
Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders
Neitz M, Neitz J.
Genes (Basel). Jul 29;12(8):1180. doi: 10.3390/genes12081180. 2021
3CBBM1, OPN1LW, OPN1MW
Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure.
Llorente-La-Orden C, Burgos-Blasco B, Domingo-Gordo B, Hernández-García E, Gómez-de-Liaño R.
J Pediatr Genet. Aug 31;11(2):151-153. doi: 10.1055/s-0040-1716332 2020
4OPN1LW, OPN1MW
The influence of L-opsin gene polymorphisms and neural ageing on spatio-chromatic contrast sensitivity in 20-71 year olds
Dees EW, Gilson SJ, Neitz M, Baraas RC.
Vision Res. Nov;116(Pt A):13-24. doi: 10.1016/j.visres.2015.08.015. Epub 2015 Sep 26. 2015
5OPN1LW, OPN1MW
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ.
Hum Mutat 35(11):1354-62. doi: 10.1002/humu.22679. 2014
6OPN1LW, OPN1MW
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG
Hum Gene Ther. Dec;24(12):993-1006. doi: 10.1089/hum.2013.153. Epub 2013 Oct 30 2013
7OPN1LW, OPN1MW, OPN1SW
Cell-specific DNA methylation patterns of retina-specific genes.
Merbs SL, Khan MA, Hackler L Jr, Oliver VF, Wan J, Qian J, Zack DJ.
PLoS One 7(3):e32602. Epub 2012 Mar 5. 2012
8OPN1LW, OPN1MW
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
Carroll J, Dubra A, Gardner JC, Mizrahi-Meissonnier L, Cooper RF, Dubis AM, Nordgren R, Genead M, Connor TB Jr, Stepien KE, Sharon D, Hunt DM, Banin E, Hardcastle AJ, Moore AT, Williams DR, Fishman G, Neitz J, Neitz M, Michaelides M.
Invest Ophthalmol Vis Sci 53(13):8006-15. doi: 10.1167/iovs.12-11087. 2012
9CORDX5, OPN1LW, OPN1MW
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ.
Adv Exp Med Biol 723:595-601. doi: 10.1007/978-1-4614-0631-0_76. No abstract available. 2012
10CBP, OPN1LW
Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.
Ueyama H, Muraki-Oda S, Yamade S, Tanabe S, Yamashita T, Shichida Y, Ogita H.
Biochem Biophys Res Commun 424(1):152-7. doi: 10.1016/j.bbrc.2012.06.094. Epub 2012 Jun 23. 2012
11OPN1LW, OPN1MW
Thyroid hormone controls cone opsin expression in the retina of adult rodents.
Glaschke A, Weiland J, Del Turco D, Steiner M, Peichl L, Glösmann M.
J Neurosci 31(13):4844-51. doi: 10.1523/JNEUROSCI.6181-10.2011. 2011
12CORDX5, OPN1LW, OPN1MW
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ.
Am J Hum Genet 87(1):26-39. Epub 2010 Jun 24.PMID: 20579627 2010
13OPN1LW
Identification of novel retinal target genes of thyroid hormone in the human WERI cells by expression microarray analysis.
Liu Y, Fu L, Chen DG, Deeb SS.
Vision Res 47(17):2314-26. Epub 2007 Jul 25. 2007
14ARR3, CRX, GCAP1, GNB3, GNGT1, GNGT2, IMPDH1, OPN1LW, OPN1MW, PDE6C, RP1L1, TIMP3
Identification of novel retinal target genes of thyroid hormone in the human WERI cells by expression microarray analysis.
Liu Y, Fu L, Chen DG, Deeb SS.
Vision Res 47(17):2314-26. Epub 2007 Jul 25. 2007
15OPN1MW, OPN1LW
Novel form of a single X-linked visual pigment gene in a unique dichromatic color-vision defect.
Hayashi T, Kubo A, Takeuchi T, Gekka T, Goto-Omoto S, Kitahara K.
Vis Neurosci 23(3-4):411-7. 2006
16OPN1MW, OPN1LW
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.
Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH.
Graefes Arch Clin Exp Ophthalmol 242(9):729-35. 2004
17CBD, CBP, OPN1LW, OPN1MW
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes.
Jagla WM, Jagle H, Hayashi T, Sharpe LT, Deeb SS.
Hum Mol Genet 11(1):23-32. 2002
18OPN1MW, OPN1LW, RGCP@
Numbers and ratios of visual pigment genes for normal red-green color vision.
Neitz M, et al.
Science 267 : 1013-1016. 1995
19CBBM1, OPN1LW, OPN1MW
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Reyniers E, Van Thienen MN, Meire F, De Boulle K, Devries K, Kestelijn P, Willems PJ.
Genomics 29(2):323-8. 1995
20OPN1LW
Polymorphism in red photopigment underlies variation in colour matching.
Winderickx J, et al.
Nature 356 : 431-433. 1992
21OPN1LW, OPN1MW
Selective expression of human X chromosome-linked green opsin genes.
Winderickx J, et al.
Proc Natl Acad Sci U S A 89 : 9710-9714. 1992